Mutagenetix > Incidental Mutation

Incidental Mutation 'R1809:Cyp2c23'

203755

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c23

Ensembl Gene

ENSMUSG00000025197

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 23

Synonyms

Cyp2c44

MMRRC Submission

039838-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44005022-44029208 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 44021558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026211] [ENSMUST00000211830]

AlphaFold

E9Q5K4

Predicted Effect

probably benign
Transcript: ENSMUST00000026211

SMART Domains

Protein: ENSMUSP00000026211
Gene: ENSMUSG00000025197

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	34	491	2.1e-152	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211830

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (107/111)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele show reduced proliferative and tubulogenic responses in lung endothelial cells, decreased tumor angiogenesis and growth of induced tumors, and high potassium-induced hypertension with decreased urinary sodium excretion and increased plasma sodium levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930502E18Rik	A	G	X: 53,733,749	E99G	probably benign	Het
9130409I23Rik	T	C	1: 181,059,687	I279T	probably damaging	Het
Ablim2	A	G	5: 35,843,270		probably benign	Het
Adamts20	C	T	15: 94,341,087	S750N	probably damaging	Het
Adh6a	G	A	3: 138,330,961	R370H	possibly damaging	Het
Akr1b7	A	G	6: 34,419,111	N183D	probably damaging	Het
Aktip	A	T	8: 91,129,720	I43N	probably damaging	Het
Ankrd26	A	T	6: 118,525,922		probably benign	Het
Ano9	G	A	7: 141,108,804	T144I	possibly damaging	Het
Anpep	G	T	7: 79,841,823	D143E	probably benign	Het
Aox2	C	A	1: 58,294,325	Q234K	probably benign	Het
Ap1g1	C	G	8: 109,833,182		probably benign	Het
Arhgef4	G	A	1: 34,810,555		probably null	Het
Armc4	T	A	18: 7,211,630	Y748F	probably benign	Het
Arsj	A	G	3: 126,438,295	Y230C	possibly damaging	Het
Asmt	C	T	X: 170,675,745		probably benign	Het
Astl	A	T	2: 127,345,485	K72N	probably damaging	Het
Atp2b2	G	A	6: 113,803,743		probably benign	Het
Baiap2l1	A	C	5: 144,324,555		probably null	Het
C7	A	T	15: 5,034,339	N193K	probably damaging	Het
Cacna2d4	G	T	6: 119,270,824	R362L	probably damaging	Het
Cct4	T	A	11: 22,997,615	D189E	probably benign	Het
Cd300lg	G	A	11: 102,043,112	G62S	probably benign	Het
Cdk14	T	A	5: 5,010,901	M307L	probably damaging	Het
Cfi	G	A	3: 129,873,119		probably null	Het
Clec2g	G	T	6: 128,980,310		probably null	Het
Cntnap2	T	C	6: 46,988,675	S807P	probably damaging	Het
Col6a3	T	A	1: 90,827,949	H206L	probably damaging	Het
Dlec1	T	C	9: 119,136,699	V1058A	probably benign	Het
Dpp9	A	G	17: 56,199,038	Y454H	probably damaging	Het
Drosha	G	A	15: 12,890,112	G920R	probably null	Het
Duox2	A	G	2: 122,283,897	S1142P	possibly damaging	Het
Fam13a	C	T	6: 58,965,060		probably null	Het
Filip1l	A	G	16: 57,506,660	R18G	probably benign	Het
Foxa1	A	G	12: 57,542,741	V231A	probably damaging	Het
Gm11756	A	G	4: 73,917,517	F237L	probably benign	Het
Gm4787	A	T	12: 81,378,529	M285K	possibly damaging	Het
Gm5084	T	A	13: 60,212,506		noncoding transcript	Het
Gm6788	G	A	19: 28,763,186		noncoding transcript	Het
Gm9922	G	T	14: 101,729,405		probably benign	Het
Gtf3c4	A	T	2: 28,833,976	Y440*	probably null	Het
Helq	A	G	5: 100,773,954	S795P	probably damaging	Het
Helz	T	A	11: 107,599,171	S151T	possibly damaging	Het
Irgm1	T	C	11: 48,866,613	T124A	probably benign	Het
Itgam	C	T	7: 128,070,937	P134S	possibly damaging	Het
Kdm6a	T	C	X: 18,236,684	Y217H	probably benign	Het
Kif6	T	C	17: 49,901,784	L744P	probably benign	Het
Kmt2c	C	T	5: 25,284,192	R1203H	probably damaging	Het
Ksr2	A	G	5: 117,555,470	T328A	probably damaging	Het
Lig1	T	C	7: 13,300,355		probably benign	Het
Lpar3	G	A	3: 146,240,548		probably benign	Het
Lrrk2	T	C	15: 91,699,892	F285S	possibly damaging	Het
March7	A	G	2: 60,232,293	D148G	probably benign	Het
Mcee	T	C	7: 64,400,301	L60S	probably damaging	Het
Mob2	A	G	7: 142,016,374	I81T	probably damaging	Het
Mphosph8	T	A	14: 56,672,452	D87E	probably damaging	Het
Myo1g	T	C	11: 6,512,283	T560A	probably benign	Het
Nagk	C	T	6: 83,797,187	T42I	probably benign	Het
Naip1	G	T	13: 100,426,239	T806K	probably benign	Het
Ncor2	A	G	5: 125,118,793		probably benign	Het
Ocln	G	T	13: 100,511,459	Y401*	probably null	Het
Olfr922	G	A	9: 38,816,147	V215I	probably benign	Het
Oma1	T	A	4: 103,325,177	N292K	probably damaging	Het
Ovch2	T	A	7: 107,790,205		probably null	Het
Pcdhb16	T	C	18: 37,478,388	F134L	probably damaging	Het
Pipox	A	T	11: 77,881,534	Y337N	probably benign	Het
Polr3b	A	G	10: 84,693,001	D763G	probably damaging	Het
Pygo1	T	A	9: 72,944,796	N88K	probably damaging	Het
Rab3gap1	T	C	1: 127,934,514	M674T	probably damaging	Het
Rbm25	T	C	12: 83,672,727		probably benign	Het
Rbm26	C	T	14: 105,117,106		probably benign	Het
Rbms2	G	A	10: 128,138,186	T187I	possibly damaging	Het
Rnase11	T	A	14: 51,049,727	R123S	probably benign	Het
Rngtt	A	G	4: 33,443,614	N485D	probably benign	Het
Rp1l1	A	T	14: 64,027,966	M334L	probably benign	Het
Rps9	T	A	7: 3,704,727	L56Q	probably damaging	Het
Saysd1	C	A	14: 20,083,102		probably benign	Het
Sema4d	C	T	13: 51,713,691		probably null	Het
Shisa5	A	T	9: 109,040,930	D34V	probably damaging	Het
Skil	A	G	3: 31,117,506	D547G	probably damaging	Het
Slc2a5	T	A	4: 150,143,057	F444L	probably damaging	Het
Slc9b2	T	G	3: 135,317,131	C10G	possibly damaging	Het
Sorcs2	G	T	5: 36,229,220		probably benign	Het
Stk17b	T	G	1: 53,765,981	K140N	possibly damaging	Het
Stradb	T	A	1: 58,994,390	L404Q	possibly damaging	Het
Synj2	T	C	17: 6,026,551	M432T	possibly damaging	Het
Tanc1	G	T	2: 59,800,097	R800L	probably damaging	Het
Tenm4	A	G	7: 96,873,780	M1473V	probably benign	Het
Tesc	A	G	5: 118,061,602	I190V	probably benign	Het
Tex15	T	C	8: 33,574,234	F1231L	probably benign	Het
Thrsp	T	C	7: 97,417,125	I127V	probably benign	Het
Tlr6	A	T	5: 64,953,712	C617*	probably null	Het
Trank1	A	T	9: 111,392,825	I2877F	probably benign	Het
Ucp1	T	C	8: 83,297,867	S274P	probably damaging	Het
Ucp2	T	A	7: 100,498,399	V195E	probably damaging	Het
Vars2	T	C	17: 35,662,216	T394A	probably damaging	Het
Vmn1r1	A	G	1: 182,157,806	V98A	possibly damaging	Het
Vmn1r225	A	G	17: 20,502,656	I120V	probably benign	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r25	A	G	6: 123,825,378	V522A	probably benign	Het
Vmn2r70	T	C	7: 85,565,922	I135V	probably benign	Het
Vwf	T	C	6: 125,590,175		probably benign	Het
Zcchc11	T	A	4: 108,549,355	H1373Q	probably damaging	Het
Zfp446	T	C	7: 12,979,121	F29L	probably damaging	Het

Other mutations in Cyp2c23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Cyp2c23	APN	19	44015073	missense	possibly damaging	0.94
IGL01642:Cyp2c23	APN	19	44005556	missense	probably damaging	1.00
IGL01782:Cyp2c23	APN	19	44029115	missense	possibly damaging	0.77
IGL01843:Cyp2c23	APN	19	44005607	missense	probably benign	0.02
IGL02902:Cyp2c23	APN	19	44021558	splice site	probably benign
IGL03382:Cyp2c23	APN	19	44014932	missense	probably damaging	0.99
R0196:Cyp2c23	UTSW	19	44012356	missense	probably damaging	0.98
R0735:Cyp2c23	UTSW	19	44016810	missense	probably damaging	1.00
R1384:Cyp2c23	UTSW	19	44013663	missense	probably damaging	1.00
R1495:Cyp2c23	UTSW	19	44005508	missense	probably benign	0.07
R1872:Cyp2c23	UTSW	19	44005551	nonsense	probably null
R2866:Cyp2c23	UTSW	19	44005446	missense	probably damaging	1.00
R3801:Cyp2c23	UTSW	19	44007039	missense	probably benign	0.11
R4234:Cyp2c23	UTSW	19	44029165	missense	unknown
R4748:Cyp2c23	UTSW	19	44016737	splice site	probably null
R4948:Cyp2c23	UTSW	19	44021699	missense	possibly damaging	0.49
R5101:Cyp2c23	UTSW	19	44029183	missense	unknown
R5420:Cyp2c23	UTSW	19	44015664	critical splice donor site	probably null
R5770:Cyp2c23	UTSW	19	44021579	missense	probably damaging	0.99
R5993:Cyp2c23	UTSW	19	44012360	missense	probably damaging	1.00
R6254:Cyp2c23	UTSW	19	44005463	missense	probably benign	0.03
R6269:Cyp2c23	UTSW	19	44029187	start codon destroyed	unknown
R6610:Cyp2c23	UTSW	19	44007081	missense	probably damaging	1.00
R7344:Cyp2c23	UTSW	19	44021737	splice site	probably null
R7603:Cyp2c23	UTSW	19	44014930	missense	probably damaging	1.00
R8054:Cyp2c23	UTSW	19	44007116	missense	probably damaging	0.99
R8098:Cyp2c23	UTSW	19	44015803	missense	probably benign	0.29
R8157:Cyp2c23	UTSW	19	44021627	missense	probably benign	0.00
R8813:Cyp2c23	UTSW	19	44013615	missense	probably benign	0.07
R9497:Cyp2c23	UTSW	19	44021646	missense	probably damaging	0.99
X0065:Cyp2c23	UTSW	19	44029171	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGCCAGTCTTGTTAGGAACG -3'
(R):5'- ACAACATCATTTGCGCAACTG -3'

Sequencing Primer
(F):5'- TTAGGAACGATGCCTGTCAC -3'
(R):5'- ATTTGCGCAACTGCTTCTG -3'

Posted On

2014-06-23